Carolinas HealthCare System

Cytogenetics

The Parke Cytogenetics Laboratory (PCL) has provided genetic services for patients and their physicians for over 30 years. The laboratory was founded in 1971 by Dr. J. C. Parke, Jr., chairman of the Department of Pediatrics, as the cornerstone of the clinical genetics program. This laboratory performs more than 3,500 tests annually. As part of Carolinas Laboratory Network, the PCL employs certified cytogenetic technologists and is associated with the Clinical Genetic Center, a multidisciplinary program that includes MD clinical geneticists, a PhD cytogeneticist, a PhD molecular geneticist and certified genetic counselors.
  
Services include tissue culture and conventional chromosome analysis on a variety of tissues: lymphocytes from children with birth defects and couples who experience repeated pregnancy loss; amniotic fluid and chorionic villus cells from who seek reassurance about high-risk pregnancies; skin fibroblasts for chromosome analysis or DNA/biochemical testing; and bone marrow or solid tumor specimens from patients with leukemia or other cancers.

In addition, the laboratory has molecular cytogenetics (fluorescence in situ hybridization or FISH) capabilities and utilizes repetitive sequence, unique sequence or whole-chromosome probes to evaluate patients with suspected microdeletion syndromes, certain leukemias, breast cancer (HER-2/neu) or other applicable conditions. One of the newest procedures developed in the laboratory involves using DNA probes to evaluate subtelomeric regions of chromosomes. Submicroscopic rearrangements in the subtelomeres account for five to seven percent of patients with unexplained mental retardation and are detectable with this new probe set.

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